Applying Genomics To Innovative Solutions For Hearing Loss

Research and Innovations Newfoundland has a special population that allows scientists to test hearing loss solutions for Canada.

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A new centre for genomics-based research and development in hearing science has been established in Newfoundland and Labrador.

The new centre leverages 15 years of research — funded by Canadian Institutes of Health Research, Genome Canada, ACOA, and RDC-NL — to identify genes causing hearing loss. The purpose of the centre is to further the understanding of auditory perception, and develop improved solutions for hearing loss through collaborative research partnerships.

While hearing loss is global, this community-based clinical research laboratory — established in partnership with the town of Grand Falls-Windsor — provides the opportunity to work with the founder population of Newfoundland and Labrador, one of the world’s rare and valuable resources for genetic studies. Large families and a culturally strong identification with family roots in specific areas of the province provide a rich opportunity for the study of inherited conditions. Participation of more than 100 families, provincial clinicians, and community partner, Canadian Hard of Hearing Association, have made this research possible.

Hearing loss is the most genetic of all disorders in humans. Hundreds of genes have specialized roles in the development and function of the ear and auditory regions in the brain. When a mutation occurs in a hearing gene, molecules that form the essential building blocks of the hearing system may be damaged. New techniques such as next generation sequencing have accelerated the discovery of genetic mutations responsible for hearing loss.

Major advances in genetic research on hearing have significant potential to improve outcome for hearing loss, but while the hearing gene discoveries multiply, knowledge translation still lags behind. The hearing system is extremely complex. Determining exactly how genes affect the auditory system is challenging. Innovation — driven by detailed understanding of how genes affect all aspects of human hearing — evolves through collaboration between universities, industry, and clinicians to advance knowledge translation.

At the new centre, we study large multigenerational families in order to understand how a specific genetic mutation causes hearing impairment, using detailed measures of hearing and auditory function. By learning how a gene change impacts the ear and brain, we hope to improve hearing therapies and inspire new treatments, in alignment with the needs of patients and their families.

Team leaders are Dr. Terry-Lynn Young, Director of Genomics Research at the Craig L. Dobbin Genetics Research Lab (Memorial University) and Dr. Susan Stanton, Associate Professor, National Centre for Audiology (Western University). Dr. Stanton has been overseeing trials of new phenotyping protocols at the National Centre for Audiology and in Newfoundland. Dr. Ian Bruce, hearing scientist and engineer (McMaster University) will use computer simulations to gain a deeper understanding of what goes wrong with the hearing system of patients with specific forms of genetic hearing loss. Anne Griffin, audiologist, who has worked with Young since 1999 is coordinator of research at the new centre.

“In clinical practice, it became apparent that the effectiveness of rehabilitation strategies is highly variable between individuals and families, and that cause and effect of most hearing loss are only vaguely understood. This is a great opportunity to contribute to better understanding and solutions for hearing loss.”

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